Marco Luigetti,1,2 Angela Romano,2 Andrea Di Paolantonio,2 Giulia Bisogni,3 Mario Sabatelli2,3

1Neurology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; 2Universit Cattolica del Sacro Cuore, Rome, Italy; 3Centro Clinico NEMO Adulti, Rome, Italy

Correspondence: Marco LuigettiNeurology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A Gemelli 8, Rome 00168, ItalyTel +39-06-3015 4435Fax +39-06-3550 1909Email mluigetti@gmail.com

Abstract: Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of amyloid, leading to dysfunction of different organs and tissues. hATTR amyloidosis represents a diagnostic challenge for neurologists considering the great variability in clinical presentation and multiorgan involvement. Generally, patients present with polyneuropathy, but clinicians should consider the frequent cardiac, ocular and renal impairment. Especially a hypertrophic cardiomyopathy, even if usually latent, is identifiable in at least 50% of the patients. Therapeutically, current available options act at different stages of TTR production, including synthesis inhibition (liver transplantation and/or gene-silencing drugs) or tetramer TTR stabilization (TTR stabilizers), increasing survival at different disease stages.

Keywords: amyloid, polyneuropathy, clinical care, therapy, transthyretin

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Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR | TCRM - Dove Medical Press